GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:002260420 | Esophagus | ESCC | regulation of cell morphogenesis | 180/8552 | 309/18723 | 5.19e-06 | 5.45e-05 | 180 |
GO:000836018 | Esophagus | ESCC | regulation of cell shape | 92/8552 | 154/18723 | 3.00e-04 | 1.81e-03 | 92 |
GO:00726735 | Esophagus | ESCC | lamellipodium morphogenesis | 14/8552 | 17/18723 | 2.22e-03 | 9.78e-03 | 14 |
GO:009758116 | Esophagus | ESCC | lamellipodium organization | 53/8552 | 90/18723 | 7.92e-03 | 2.82e-02 | 53 |
GO:0022604112 | Thyroid | PTC | regulation of cell morphogenesis | 165/5968 | 309/18723 | 2.60e-15 | 1.82e-13 | 165 |
GO:0008360111 | Thyroid | PTC | regulation of cell shape | 86/5968 | 154/18723 | 6.22e-10 | 1.95e-08 | 86 |
GO:009758119 | Thyroid | PTC | lamellipodium organization | 44/5968 | 90/18723 | 5.59e-04 | 3.56e-03 | 44 |
GO:001481212 | Thyroid | PTC | muscle cell migration | 50/5968 | 110/18723 | 1.93e-03 | 1.04e-02 | 50 |
GO:002260429 | Thyroid | ATC | regulation of cell morphogenesis | 171/6293 | 309/18723 | 2.36e-15 | 1.70e-13 | 171 |
GO:000836026 | Thyroid | ATC | regulation of cell shape | 91/6293 | 154/18723 | 7.33e-11 | 2.31e-09 | 91 |
GO:004269216 | Thyroid | ATC | muscle cell differentiation | 165/6293 | 384/18723 | 7.17e-05 | 5.46e-04 | 165 |
GO:0097581110 | Thyroid | ATC | lamellipodium organization | 48/6293 | 90/18723 | 8.92e-05 | 6.59e-04 | 48 |
GO:001481221 | Thyroid | ATC | muscle cell migration | 54/6293 | 110/18723 | 5.47e-04 | 3.16e-03 | 54 |
GO:005114617 | Thyroid | ATC | striated muscle cell differentiation | 119/6293 | 283/18723 | 1.74e-03 | 8.70e-03 | 119 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
PLEKHO1 | SNV | Missense_Mutation | | c.1162N>A | p.Leu388Met | p.L388M | Q53GL0 | protein_coding | deleterious_low_confidence(0.05) | possibly_damaging(0.77) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PLEKHO1 | SNV | Missense_Mutation | rs376545625 | c.86N>A | p.Arg29Gln | p.R29Q | Q53GL0 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-AP-A0LH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | PD |
PLEKHO1 | SNV | Missense_Mutation | | c.189N>T | p.Glu63Asp | p.E63D | Q53GL0 | protein_coding | tolerated(0.25) | benign(0.077) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
PLEKHO1 | SNV | Missense_Mutation | novel | c.962A>G | p.Glu321Gly | p.E321G | Q53GL0 | protein_coding | deleterious(0.02) | probably_damaging(0.946) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
PLEKHO1 | SNV | Missense_Mutation | | c.611N>T | p.Ala204Val | p.A204V | Q53GL0 | protein_coding | tolerated(0.21) | benign(0.154) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
PLEKHO1 | SNV | Missense_Mutation | novel | c.1004N>C | p.Lys335Thr | p.K335T | Q53GL0 | protein_coding | tolerated(0.07) | possibly_damaging(0.879) | TCGA-DF-A2KY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
PLEKHO1 | SNV | Missense_Mutation | | c.377N>T | p.Ala126Val | p.A126V | Q53GL0 | protein_coding | tolerated(0.2) | benign(0.044) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
PLEKHO1 | SNV | Missense_Mutation | novel | c.1127T>G | p.Val376Gly | p.V376G | Q53GL0 | protein_coding | deleterious(0) | probably_damaging(0.916) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
PLEKHO1 | SNV | Missense_Mutation | novel | c.556A>G | p.Thr186Ala | p.T186A | Q53GL0 | protein_coding | deleterious(0.03) | probably_damaging(0.991) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
PLEKHO1 | SNV | Missense_Mutation | rs368658506 | c.1213N>T | p.Arg405Trp | p.R405W | Q53GL0 | protein_coding | deleterious_low_confidence(0) | benign(0.011) | TCGA-SJ-A6ZI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |